A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550258



Internal ID22419188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49922770..49922770hg38UCSC Ensembl
chr22:50316418..50316418hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396951
SamplesNA19240
Known GenesCRELD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3550258
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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